Exercise-Induced Collapse / EIC
            Breed: Rhodesian Ridgeback
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
                
                
            
            
        
        General
        
            Disease Name
        
    
    
            Exercise-Induced Collapse / EIC
            
        
        
        
            OMIA
        
    
    
            1466
            
        
        
        
            Gene Name
        
    
    
            DNM1
            
        
        
        
            Mutation
        
    
    
            c.767G>T
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Key Comments
        
    
    
            The mutation associated with EIC has been identified in a number of breeds - particularly hunting/working breeds. As the EIC phenotype requires an environmental stimulus in most cases, it should be noted that dogs could be genetically affected for EIC without displaying the condition. It may be valuable to breeders of those breeds where the mutation has been detected to use a genetic test, where breed-specific research is ongoing.
            
        
        
        
            Details
        
    
    
            EIC appears to be autosomal recessive in inheritance, but is unique in that the clinical signs are environmentally induced in dogs homozygous for the mutation. Affected dogs appear normal, and are capable of moderate exercise without incident. However, shortly after any strenuous exercise or excitement, they develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, and confusion. In extreme cases, it has been reported as fatal. Research indicates that the d-EIC mutation for this test may be particularly important to Labrador retrievers concerned about EIC, based on the N. American and European dog populations in the study. A number of hunting/retrieving breeds have been investigated, with phenotype confirmed in some, and suspected in additional breeds. In addition, there are likely other, unrelated causes of excercise intollerance and collapse. Breeds where phenotype and mutation has been established: Labrador Retrievers (and their crosses), Chesapeake Bay Retrievers, Curly-coated Retrievers, Boykin Spaniels, Pembroke Welsh Corgi. Breeds where the mutation has been detected: American Cocker Spaniel, Bouvier des Flanders, Clumber Spaniel, English Cocker Spaniel, German Wirehaired Pointer, Old English Sheepdog, Hungarian Shorthaired Vizsla, Hungarian Wirehaired Vizsla.
            
        
        
        
            Details 2
        
    
    
            Affected dogs have normal muscle mass, normal patellar reflexes before an episode of EIC, normal findings on muscle biopsy and are capable of moderate exertion without showing signs (Taylor et al., 2008, Patterson et al., 2008). Signs begin within 2 minutes after cessation of 5 to 15 minutes of strenuous exercise. Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, confusion, loss of consciousness, and rarely death. Episodes frequently last 5-10 minutes, often with complete recovery after 30 minutes. Loss of patellar reflexes persists after initial recovery.
            
        
        
        
            Published
        
    
    
            Patterson, EE., Minor, KM., Tchernatynskaia, AV., Taylor, SM., Shelton, GD., Ekenstedt, KJ., Mickelson, JR. : A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet 40:1235-9, 2008. Pubmed reference: 18806795. DOI: 10.1038/ng.224.
            
        
        
        
            Published 2
        
    
    
            Taylor, SM., Shmon, CL., Shelton, GD., Patterson, EN., Minor, K., Mickelson, JR. : Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability. J Am Anim Hosp Assoc 44:295-301, 2008. Pubmed reference: 18981194.
            
        
        
        
            Body/System/Process
        
    
    
            Neuromuscular
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Labrador retrievers, Labrador retriever crosses, Chesapeake Bay retrievers, curly-coated retrievers, Boykin spaniels, Pembroke welsh corgi
            
        
        HSP Test-Specific Data
Generatio GmbH Center for Animal Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Generatio GmbH Center for Animal Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
            
        
        
        
            Gene Name
        
    
    
            DNM1
            
        
        
        
            Mutation
        
    
    
            c.767G>T
            
        
        
        
            This test is outsourced to:
        
    
    
            outsourced for patent reasons
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            DNM1
            
        
        
        
            Mutation
        
    
    
            c.767G>T
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
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